Article
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.
Glycobiology - 1 Dec 2001
Wang Y, Tan J, Sutton-Smith M, Ditto D, Panico M, Campbell R M, Varki N M, Long J M, Jaeken J, Levinson S R, Wynshaw-Boris A, Morris H R, Le D, Dell A, Schachter H, Marth J D
Abstract excerpt
The congenital disorders of glycosylation (CDGs) are recent additions to the repertoire of inherited human genetic diseases. Frequency of CDGs is unknown since most cases are believed to be misdiagnosed or unrecognized. With few patients identified and heterogeneity in disease signs noted, studies of animal models may provide increased understanding of pathogenic mechanisms. However, features of mammalian glycan...
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